Coloboma

An abnormality in which a part of a structure in one or both eyes is missing.

Subtypes

Disease	ID	Subtypes	Genes
Microphthalmia, isolated, with coloboma	MONDO:0000170	14
Coloboma of eyelid	MONDO:0020357	2
Coloboma of optic nerve	MONDO:0007354	1	PAX6
Calloso-genital dysplasia	MONDO:0022060
Coloboma of eye lens	MONDO:0020355
Coloboma of macula	MONDO:0007351
Coloboma, ocular, autosomal recessive	MONDO:0009002		SALL2

Rare disease

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